Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanAcute neonatal citrullinemia type I
ORPHA:247546Clinical subtype
Also called Acute neonatal citrullinemia type 1 · Early-onset citrullinemia type 1 · Early-onset citrullinemia type I
What it is
A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (Europe)Citrullinemia type I
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.